Variant report

Variant	rs1345524
Chromosome Location	chr12:47758720-47758721
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47758575..47760381-chr12:47762018..47764513,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1620557	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1642944	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1642945	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1642946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1642947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1642948	0.85[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1642949	0.89[ASN][1000 genomes]
rs1730448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1730449	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1730452	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1730454	0.89[ASN][1000 genomes]
rs2078033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2141517	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2141518	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2936554	0.88[ASN][1000 genomes]
rs2936555	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73101748	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1345524	RPAP3	cis	parietal	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47755400-47759600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:47755400-47761600	Weak transcription	Spleen	Spleen
3	chr12:47755600-47760000	Weak transcription	Adipose Nuclei	Adipose
4	chr12:47755600-47760800	Enhancers	Primary T cells fromperipheralblood	blood
5	chr12:47755600-47762200	Weak transcription	Thymus	Thymus
6	chr12:47755800-47759000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr12:47755800-47763000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr12:47756200-47771000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:47756400-47759400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr12:47756600-47759400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:47756600-47759400	Weak transcription	K562	blood
12	chr12:47756600-47759800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:47756600-47760000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:47756600-47761200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:47756800-47760200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr12:47756800-47762200	Weak transcription	Fetal Thymus	thymus
17	chr12:47756800-47763200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:47756800-47763200	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr12:47757800-47759000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr12:47758000-47759200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:47758000-47759400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr12:47758400-47761000	Enhancers	Primary T cells from cord blood	blood
23	chr12:47758600-47759000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr12:47758600-47759000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:47758600-47759200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr12:47758600-47759600	Weak transcription	Dnd41	blood
27	chr12:47758600-47761800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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